rs386834059, VPS13B

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cohen syndrome
CUI: C0265223
Disease: Cohen syndrome
292 0.925 0.400 8 99861824 frameshift variant -/GGAC delins 7.0E-06 0.700 1.000 1 2004 2004
Chediak-Higashi Syndrome
CUI: C0007965
Disease: Chediak-Higashi Syndrome
14 0.925 0.400 8 99861824 frameshift variant -/GGAC delins 7.0E-06 0.010 1.000 1 2014 2014